Canonical Allele Identifier: CA349417287

Linked Data

dbSNP Id: rs761394437

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534066G>C , CM000664.2:g.178534066G>C GRCh38
NC_000002.11:g.179398793G>C , CM000664.1:g.179398793G>C GRCh37
NC_000002.10:g.179107039G>C NCBI36
NG_011618.3:g.301737C>G , LRG_391:g.301737C>G
NG_051363.1:g.16240G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94845C>G (TTN) ENSP00000343764.6:p.Tyr31615Ter
ENST00000342175.11:c.75930C>G (TTN) ENSP00000340554.6:p.Tyr25310Ter
ENST00000359218.10:c.75729C>G (TTN) ENSP00000352154.5:p.Tyr25243Ter
ENST00000342175.10:c.75930C>G (TTN) ENSP00000340554.6:p.Tyr25310Ter
ENST00000342992.10:c.94845C>G (TTN) ENSP00000343764.6:p.Tyr31615Ter
ENST00000359218.9:c.75729C>G (TTN) ENSP00000352154.5:p.Tyr25243Ter
ENST00000460472.6:c.75354C>G (TTN) ENSP00000434586.1:p.Tyr25118Ter
ENST00000589042.5:c.102549C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr34183Ter
ENST00000591111.5:c.97626C>G (TTN) ENSP00000465570.1:p.Tyr32542Ter
ENST00000615779.4:c.97626C>G (TTN) ENSP00000483597.1:p.Tyr32542Ter
NM_001256850.1:c.97626C>G (TTN) NP_001243779.1:p.Tyr32542Ter
NM_001267550.2:c.102549C>G (TTN) MANE Select NP_001254479.2:p.Tyr34183Ter
NM_003319.4:c.75354C>G (TTN) NP_003310.4:p.Tyr25118Ter
NM_133378.4:c.94845C>G (TTN) NP_596869.4:p.Tyr31615Ter
NM_133432.3:c.75729C>G (TTN) NP_597676.3:p.Tyr25243Ter
NM_133437.4:c.75930C>G (TTN) NP_597681.4:p.Tyr25310Ter
NR_038271.1:n.446+10430G>C (TTN-AS1)
NR_038272.1:n.220-1666G>C (TTN-AS1)
XM_011511729.1:c.101646C>G (TTN) XP_011510031.1:p.Tyr33882Ter
XM_011511730.1:c.75540C>G (TTN) XP_011510032.1:p.Tyr25180Ter
XM_011511731.1:c.75399C>G (TTN) XP_011510033.1:p.Tyr25133Ter
XM_017004819.1:c.101442C>G (TTN) XP_016860308.1:p.Tyr33814Ter
XM_017004820.1:c.96840C>G (TTN) XP_016860309.1:p.Tyr32280Ter
XM_017004821.1:c.96837C>G (TTN) XP_016860310.1:p.Tyr32279Ter
XM_017004822.1:c.93879C>G (TTN) XP_016860311.1:p.Tyr31293Ter
XM_017004823.1:c.75495C>G (TTN) XP_016860312.1:p.Tyr25165Ter
XM_024453094.1:c.96990C>G (TTN) XP_024308862.1:p.Tyr32330Ter
XM_024453095.1:c.96987C>G (TTN) XP_024308863.1:p.Tyr32329Ter
XM_024453096.1:c.96420C>G (TTN) XP_024308864.1:p.Tyr32140Ter
XM_024453097.1:c.93762C>G (TTN) XP_024308865.1:p.Tyr31254Ter
XM_024453098.1:c.93681C>G (TTN) XP_024308866.1:p.Tyr31227Ter
XM_024453099.1:c.75444C>G (TTN) XP_024308867.1:p.Tyr25148Ter
XM_024453100.1:c.65298C>G (TTN) XP_024308868.1:p.Tyr21766Ter